Variant report

Variant	rs2444563
Chromosome Location	chr2:178162586-178162587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178161574..178163078-chr2:178172533..178174377,2	K562	blood:
2	chr2:178128005..178131104-chr2:178160409..178162642,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222043	Chromatin interaction
ENSG00000116044	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10172305	1.00[ASN][1000 genomes]
rs10173008	1.00[ASN][1000 genomes]
rs10173172	1.00[ASN][1000 genomes]
rs10176724	1.00[ASN][1000 genomes]
rs10179735	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs10179975	0.89[CEU][hapmap];0.95[TSI][hapmap]
rs10196753	1.00[ASN][1000 genomes]
rs10196915	1.00[ASN][1000 genomes]
rs10207932	0.89[CEU][hapmap];0.95[TSI][hapmap]
rs10497510	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930784	0.89[CEU][hapmap];0.95[TSI][hapmap]
rs10930785	0.89[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs10930786	1.00[ASN][1000 genomes]
rs10930789	1.00[ASN][1000 genomes]
rs11889478	1.00[ASN][1000 genomes]
rs12621156	1.00[ASN][1000 genomes]
rs12623239	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs12693118	1.00[ASN][1000 genomes]
rs12693119	1.00[ASN][1000 genomes]
rs12987686	0.89[CEU][hapmap];0.95[TSI][hapmap]
rs13001890	0.94[CEU][hapmap]
rs13002088	0.94[CEU][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs1349762	1.00[ASN][1000 genomes]
rs1377491	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453369	1.00[ASN][1000 genomes]
rs1453376	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs1463287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463288	0.94[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466208	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551287	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551288	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551289	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551290	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584806	1.00[ASN][1000 genomes]
rs1597958	0.81[EUR][1000 genomes]
rs1597959	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648502	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869357	1.00[ASN][1000 genomes]
rs1901828	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973044	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1973045	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973047	0.81[EUR][1000 genomes]
rs2084966	1.00[ASN][1000 genomes]
rs2123641	1.00[ASN][1000 genomes]
rs2123643	1.00[ASN][1000 genomes]
rs2123644	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123645	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167903	1.00[ASN][1000 genomes]
rs2167904	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364733	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs2364846	1.00[ASN][1000 genomes]
rs2364847	0.80[ASW][hapmap];0.89[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs2364848	0.89[CEU][hapmap];0.95[TSI][hapmap]
rs2364849	1.00[ASN][1000 genomes]
rs2364850	1.00[ASN][1000 genomes]
rs2444564	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2464655	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602527	0.94[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602528	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706143	0.94[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706145	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706146	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706147	0.94[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2706150	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706153	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706154	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706155	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706156	0.94[CEU][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706157	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706158	0.92[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706160	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2706162	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706163	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3952496	1.00[ASN][1000 genomes]
rs4130304	0.89[CEU][hapmap]
rs4350784	1.00[ASN][1000 genomes]
rs4893826	1.00[ASN][1000 genomes]
rs4893827	1.00[ASN][1000 genomes]
rs4893930	0.89[CEU][hapmap]
rs4893933	1.00[ASN][1000 genomes]
rs4893955	0.86[GIH][hapmap]
rs56951837	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6414095	0.94[CEU][hapmap];0.95[TSI][hapmap]
rs6433661	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6433662	1.00[ASN][1000 genomes]
rs6719278	1.00[ASN][1000 genomes]
rs6721168	1.00[ASN][1000 genomes]
rs6732113	1.00[ASN][1000 genomes]
rs6732256	0.94[CEU][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs6739792	1.00[ASN][1000 genomes]
rs6741974	1.00[ASN][1000 genomes]
rs6754660	1.00[ASN][1000 genomes]
rs72946169	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559715	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566603	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566686	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573334	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573583	0.94[CEU][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575328	0.89[CEU][hapmap]
rs7588444	1.00[ASN][1000 genomes]
rs7604299	1.00[ASN][1000 genomes]
rs9288001	1.00[ASN][1000 genomes]
rs952034	0.94[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917333	1.00[ASN][1000 genomes]
rs9941681	0.84[CEU][hapmap];0.86[GIH][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2444563	LOC100130691	cis	parietal	SCAN
rs2444563	OSBPL6	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178146600-178180400	Weak transcription	Esophagus	oesophagus
2	chr2:178147800-178163000	Weak transcription	Hela-S3	cervix
3	chr2:178147800-178187000	Weak transcription	HSMM	muscle
4	chr2:178147800-178190800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:178151400-178167200	Weak transcription	Left Ventricle	heart
6	chr2:178151400-178179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:178152000-178171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:178152800-178178200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:178155600-178174000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:178155800-178166600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:178155800-178167000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:178155800-178167400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:178155800-178185200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:178156400-178172000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:178157800-178171600	Weak transcription	Primary T cells from cord blood	blood
16	chr2:178160400-178187200	Weak transcription	Brain Angular Gyrus	brain
17	chr2:178160600-178163200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:178160600-178166800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:178160800-178186000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:178160800-178196200	Weak transcription	Ovary	ovary
21	chr2:178161000-178162800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:178161000-178163000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:178161000-178163000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:178161000-178165200	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:178161200-178163000	Weak transcription	HepG2	liver
26	chr2:178161200-178171200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:178161400-178162600	Weak transcription	Stomach Mucosa	stomach
28	chr2:178161400-178163200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:178161400-178163400	Weak transcription	Psoas Muscle	Psoas
30	chr2:178161400-178165800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:178162200-178163000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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